Table 2.
Comparison of the clinical and biological data of the patients of the present study to the literature
| Patient | Linglart et al. [4] (n = 3) | Lee et al. [11] (n = 2) | Nagasaki et al. [15] (n = 1) | Linglart et al. [7] (n = 11 news) | Muhn et al. [14] (n = 4+/7) | Kaname et al. [10] (n = 1) | Li et al. [12] (n = 1) | Rhayem et al. [16] (n = 1 new) | This study (n = 9) | Lee et al. [11] (n = 3) | Linglart et al. [7] (n = 2 news) | Lynch et al. [6] (n = 8) | Lindstrand et al. [13] (n = 5) | Kaname et al. [10] (n = 7) | This study (n = 11) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sex | 2M | 5M/6F | 1M/3F | 1M | 6F/3M | 2M/1F | 2F | 4M/3F | 4F/7M | ||||||
| Age (death?) | 3 to 26 y | 11.5 to 31 y | 3.5 to 39 y | 12 y | 9 y | 5.5 to 37 y | 3 to 26 y | 2.5 to 41 y | 3.5 to 14.5 y | 3.5 to 39 y | 4.5 to 33 y | ||||
| Ethnicity | Europe and mixed Europe/west Africa | Japanese | Vietnamese / Caucasian | Japanese and Korean | Chinese | Caucasian, Maghreb, Chinese | Japanese and Korean | Caucasian, Turkish, South Arabia | |||||||
| Gene sequencing | |||||||||||||||
| PRKAR1A | p.Arg368* (×3) | p.Arg335Pro ; p.Ile327Thr | p.Thr239Ala | p.Arg368* (x6); p.Gln285Arg ; p.Gly289Glu ; p.Ala328Val; p.Arg335Leu; p.Gln372* | p.Arg368*, p.Ala213Thr, p.Tyr373Cys, p.Arg335Cys | p.Arg368* | p.Gly289Glu | p.Tyr175Cys | p.Arg368*, p.Tyr373His, p.323Ser, p.Trp262Cys, p.Tyr323Cys | / | / | / | / | / | / |
| PDE4D | / | / | / | / | / | / | / | / | / | p.Gln228Glu; p.Glu590Ala; p.Gly673Asp | p.Ala227Ser ; p.Glu590Ala | p.Ala243Val (×4) ; p.Ile617Thr; p.Val268Ala; p.Ser240Thr; p.Pro164Leu | p. Phe226Val; p.Met303Val; p.Val329Ala; p.Phe226Cys; p.Ile678Thr | p.Ile678Thr (×2); p.Gly673D; p.Gln228Phe (×2); p.Leu230Ser ; p.Thr587Ala | p.Phe226Ser, p.PRo225Thr, p.Ser190Ala, p.Thr587Pro, p.Tyr677Asp, p.Thr591Asn, p.Ser190Pro, p.Ile333Val, p.Leu316Phe, p.Val329Ala, p.Ser301Asn |
| IUGR | + 3/3 | NA | − | + 8/11 | NA | + | 8 | NA | +1/2 | 4 | |||||
| Postnatal growth retardation | + 3/3 | + 2/2 | + | + 7/11 | + 3/4 | − 1/1 | + | − | 8 | + 2/2 | +1/2 | − (7/8) | − (3/5) | +4/7 | 3 |
| Actual height (SD) | −2.5 to −4 | Mild | −3.1 | −1 to −4.6 | −1.1 to −3.3 | −1.7 | −2 | +1 | −6.7 to −0.9 | Mild | 0.4 to −3 | −0.7 to −2.9 | −0.2 to −5.9 | −3 to +1.8 | |
| Obesity | − 3/3 | NA | + 2/11 | NA | − 1/1 | − | 3 | NA | + 2/2 | + (4/8) | − (4/5) | − 7/7 | 1 | ||
| Facial dysostosis | |||||||||||||||
| Nasal hypoplasia | + 3/3 | + 2/2 | + | + 11/11 | + 2/4 | + 1/1 | + | 3 | + 3/3 | + 2/2 | + (7/8) | + (5/5) | + 7/7 | 9 | |
| Depressed nasal bridge | NA | Midface hypoplasia | + 5/11 severe hypoplasia | + 1/4 | + 1/1 mild NM hypoplasia | + | 8 | Midface hypoplasia | − 2/2 severe hypoplasia | + 7/7 severe NM hypoplasia | 11 | ||||
| Prominent mandibule | NA | NA | NA | + 1/4 | NA | 3 | NA | NA | NA | 5 | |||||
| Peripheral dysostosis | |||||||||||||||
| Severe brachydactyly | + 3/3 | + 2/2 | + | + 11/11 | + 4/4 | + 1/1 mild | 9 | + 3/3 | + 2/2 | + (7/8) | + (5/5) | + 7/7 severe | 11 | ||
| Short, broad metatarsals, metacarpals and phalanges | + 3/3 | + 2/2 | + | + 11/11 | + 4/4 | + 1/1 | + | + | 9 | + 3/3 | + 2/2 | + (6/6) | + (4/4) | + 7/7 | 10 |
| Cone-shaped epiphyses | + 3/3 | NA | + | + 11/11 | + 4/4 | NA | + | 8 | NA | + 2/2 | + (2/6?) | NA | NA | 7 | |
| Advanced bone age | + 3/3 | NA | + 9/11 | NA | + 1/1 | + | 4 | NA | + 2/2 | + (2/2) and 1 N | NA | + 7/7 | 6 | ||
| X-rays | |||||||||||||||
| Narrowing of caudal vertebral interpedicular distance | + 3/3 | + 2/2 | + 1/4 | NA | + | 5 | + 3/3 | − | + (2/3) | 1 | |||||
| Hormonal screening | |||||||||||||||
| PTH (ng/L) | ↑ 3/3 | ↑ | ↑ 11/11 | ↑ (2/2) | N 1/1 | ↑ | ↑ | 8↑ | N 2/2 | N (8/8) | ↑ (4/5) | N 7/7 | 1 slightly↑ | ||
| GH secretory response | Impaired 2/2 | N | ↑ HGH (1/3) | 1 complete deficiency | N | ||||||||||
| Gonadotropic axis | Mild gonadotropin resistance | N | ↑ FSH (1/3) | N | N | ||||||||||
| OGE | 2M: bilateral cryptorchidism—1F: normal | cryptorchidism: 1/2M | M: normal (5/5)—F: 2/6 with irregular cycles | N | 1 cryptorchidism | Unilateral undescended testis : 1/2 | Normal | 5M: 2 hypospadias; 3 cryptorchidism —3F: normal | 4M:1 cryptorchidism | 1 testicular ectopy; 1 feminine hypospadias | |||||
| Free T4 (pmol/L) | N 3/3 | Congenital hypothyroidism 1/2 | N | N or ↓ | NA | N | N | N or ↓ | Congenital hypothyroidism 1/3 | N or ↓ | N (8/8) | N (4/4) | N | ||
| TSH (mUI/L) | ↑ 3/3 | ↑ | ↑ 9/11 | ↑ (2/3) | ↑ 1/1 | ↑ | ↑ | 8↑ | N 2/2 | N (7/8) | N (4/4) | N 7/7 | N | ||
| Neurology | |||||||||||||||
| Mental retardation | + 2/2 (mild) | + (mild) | − 11/11 | + 1/4 (mild) | + 1/1 mild | − | 1 | + 2/3 (1 mild; 1 significant) | + 2/2 | + (8/8) | + (5/5) | + 7/7 (1 mild/6 severe) | 9 | ||
| Other | CNS calcifications 1/3 | NA | + 5/11 (behavioral troubles) | Coarse hair (1), sensineural deafness (1) | / | NA | − 2/2 (behavioral troubles) | Red hair, intracranial hypertension | |||||||