There are orodigitofacial syndromes that are reported in the literature that
correspond to the clinical observations made about this baby (Martinot,V. et
al, Orodigitofacial syndromes type I and II:  Clinical and surgical studies,
Cleft Palate Craniofac J 1994, Sept; 31(5):401-8.)

Nasal anomalies, alar hypoplasia, ankyloglossia, atypical palates, Hair and
cutaneous anomalies, epicanthal folds (the Down Syndrome appearance), hand
and toe anomalies.  ODF Type I is X-linked dominant variable expression; ODF
II is autosomal recessive.  Hypospadias is sometimes observed in children
with other mid-line defects and runs in families as a genetic trait, so this
baby may have characteristics in common with the sibling only manifesting
more severely.  The Japanese lit on ankyloglossia observes that the mid-line
defect expressed in the frenulae of the mouth often continues down the whole
system, creating deviations of the epiglottis and larynx that contribute to
apnea, sleep disorder, and aspiration (the nasal debris).  As this baby
certainly appears to have respiratory sx, scoping him for a look deeper in
his throat might be a good place for an ENT to start looking.  A baby with
respiratory distress will always have increased work of feeding and will
prioritize breathing over eating.  I would write the report to the
pediatrician carefully, describing your observations and recommending the
baby be worked up.

Barbara Wilson-Clay BSEd, IBCLC
Austin Lactation Associates
http://www.lactnews.com
----- Original Message -----
From: Cathy Liles <[log in to unmask]>
To: Judy Hopkinson <[log in to unmask]>; Janet Rourke
<[log in to unmask]>; Hellen Sullivan
<[log in to unmask]>; Barbara Wilson-Clay <[log in to unmask]>
Sent: Tuesday, March 20, 2001 11:17 AM
Subject: Fw: Difficult case- help needed (long)


>
>
>
> >
> > Howdy,
> > I saw a baby yesterday that I am very concerned about. I would
appreciate
> > your collective wisdom in managing this situation. This is baby #4 and
> all
> > others were breastfed for one year, gained well and thrived. This baby
is
> > below birthweight at 6 weeks. All of the babies were born at home with a
> > midwife. Baby was 8# 10 oz at birth- he was weighed twice because they
> > thought he should weigh more (big baby). The baby was seen at two weeks
> by
> > a family medicine physician for a well baby check up, he weighed 8# 12
> oz,
> > and was nursing well and no concern was mentioned to the parents about
> > weight gain and no follow up requested.  At six weeks they saw the same
> > family doc for possible hip dysplasia, his hips "pop", he weighed 9#4 oz
> > and no concern was made of his weight, but a referral was made to a
> > pediatrician for hip follow-up. He was seen by the pediatrician 4 days
> > later and weighed 8# 8oz on the pedi's scales, his hips are fine and the
> > pediatrtion watched him nurse and suggested they bring him back for a
> > weight check in a week, no other follow-up was requested. I was
contacted
> > because the mother was unsure of how to proceed and wondered what she
> > should eat to make her milk richer. After a long phone conversation, I
> felt
> > the baby needed to be seen and evaluated more thoroughly. I saw him and
> was
> > appalled by his appearance. He was very thin, very white skinned with
> > little red blotches. His skin was baggy on his legs. Both of his parents
> > thought he looked really good- good color etc. His eyes were wide and
sad
> > looking, he did not make much eye contact. His neck was flexed back
> firmly
> > like a hypotonic baby, but the rest of his body was rag doll like. His
> > parents said he had done that since birth. His mouth was open wide and
he
> > was breathing very loudly through his mouth. He had a fairly tight
> frenulum
> > and his tongue retracted when he cried. He had a very high arched palate
> > and a very receded chin. I checked his suck and he was able to pull my
> > finger back and suck appropriately for a short time and then lost
> interest.
> > My finger was very awkward in his mouth and it didn't seem to fill up
all
> > of the spaces as most babies do. His mouth was dry and his lips were
dry.
> > His skin was not tenting and his fontanel was normal. He cried off and
on
> > and seemed to be in great discomfort/pain. His breathing with head
tipped
> > back and mouth opened seemed to be an effort to maximize his airway. His
> > breaths were noisy and raspy at times, he seemed to have some nasal or
> > upper throat congestion, but no mucous was observed. At times he would
> look
> > like he was going to gag or cough and nothing would happen, but he would
> > hold his breath at those times.  I held him in a colic hold with his
head
> > slightly down and patted his back and he seemed to relax, but did not
> cough
> > or drip. Pre-feed he weighed 8# 6oz with clothes on. I really think he
is
> > continuing to lose weight. He is fed on demand, wakes every two-three
> > hours, nurses well according to mom. He sleeps with his parents or in a
> > cradle for part of the night. They have been waking him twice the past
> > couple of nights because they were concerned about his weight and wanted
> > him to have those night feeds. He latched on quickly, but had his bottom
> > lip under, I pulled it out and distracted him, he pulled off and cried
> for
> > quite a while and would not go back on the breast, Mom changed him, his
> > bottom is scalded looking, very red angry rash. There were some
satellite
> > lesions and I suspected there might be some thrush. His poop was Kelly
> > green and thin with a moderate quantity. His parents said they have been
> > that color since birth. Never yellow, never seedy. They reported that he
> > always stools as soon as he eats. He was calmed and then offered the
> breast
> > again. He had not fed in a couple of hours, but had been wakened from
his
> > nap to come see me. Mom said he was very tired and didn't nurse well
when
> > he wanted to sleep. He had a rough time latching onto the breast, but
> then
> > quieted and nursed well. Mom had three observed letdowns on one side and
> > two on the other. He nursed on the first side for about 10 minutes and
> then
> > on the second for 20-30 while we talked. We weighed him and he took 1.3
> > ounces. I was surprised by the low intake because he did a lot of
> > swallowing and mom seemed to have a very good supply. She said she can
> > squirt it across the room and leaks. While we weighed him he had a
stool.
> > We weighed the diaper and calculated a stool weight of .4 oz. I
> calculated
> > intake based on that and felt that he was not taking enough in a day. He
> > also has an inguinal hernia and is uncomfortable with that at times. The
> > midwife was initially concerned about possible Down's Syndrome because
he
> > has small, flat, low set ears and a Simian crease on his palm. Dad
> reports
> > having the same crease and showed me, he said one of their other
children
> > had this also and another has identical ears to the baby and none have
> had
> > any health problems except a brother who had hypospadias which was
> > corrected with surgery. I was amazed that the doctors were not concerned
> > about this baby, I recommended follow-up and suspect he needs to be
> > hospitalized. His breathing difficulties were disturbing, he would also
> get
> > blue around the mouth, but not his lips. His nail beds were pink and his
> > toes were white. I was not able to evaluate capillary refill because
they
> > didn't fill. On his fingers refill was slower than 3 seconds. His feet
> were
> > cool to the touch, but his hands were warm. His mother was unsure how
> often
> > he pees because his diapers all have the bright green poop. I suggested
> > that they return to the pediatrician and share my concerns. I was blunt
> > about telling them that this was very scary and at a minimum they needed
> to
> > feed the baby more. Mother thought she could express milk and supplement
> > with a bottle. They were open to using formula or anything I suggested.
I
> > didn't feel an SNS would be helpful because of his breathing
difficulties
> > and the apparent good flow at the breast currently. I am perplexed-
could
> > it be a metabolic problem, cardiac, respiratory, genetic, oral motor,
> > anatomic, gastrointestinal, poor intake or poor utilization? I would
> > appreciate any suggestions in terms  of where to direct this mother and
> > baby. I'm sorry this is so long. Thanks, Cathy Liles
> >
>

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